Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Miguel Ángel Torralba Cabeza"'
Autor:
Marta Orejudo de Rivas, Javier Mateo Gabás, Miguel Ángel Torralba Cabeza, Olivia Esteban Floría, Raquel Herrero Latorre, Eva Núñez Moscarda, Julia Aramburu Clavería, Guillermo Pérez Rivasés, Javier Ascaso Puyuelo
Publikováno v:
Diagnostics, Vol 13, Iss 7, p 1348 (2023)
Neurofibromatosis type 1 (NF1) is one of the central nervous system’s most common autosomal dominant conditions. The diagnosis is based on the clinical diagnostic criteria and/or a molecularly confirmed mutation in the NF1 gene. This study investig
Externí odkaz:
https://doaj.org/article/03dc2ee67c7c4e08a193e860bac54225
Autor:
Marta Dafne Cabañero-Navalon, Victor Garcia-Bustos, Maria Nuñez-Beltran, Pascual Císcar Fernández, Lourdes Mateu, Xavier Solanich, Juan Luis Carrillo-Linares, Ángel Robles-Marhuenda, Francesc Puchades-Gimeno, Ana Pelaez Ballesta, Nuria López-Osle, Miguel Ángel Torralba-Cabeza, Ana María Bielsa Masdeu, Jorge Diego Gil, Nuria Tornador Gaya, Guillem Pascual Castellanos, Rosario Sánchez-Martínez, José Manuel Barragán-Casas, Andrés González-García, José Luís Patier de la Peña, Daniel López-Wolf, Antonia Mora Rufete, Alba Canovas Mora, Maria José Forner Giner, Pedro Moral Moral
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum. CVID-associated non-infectious morbidity constitutes a major challenge requiring a full understanding
Externí odkaz:
https://doaj.org/article/4379205b098449cdbef73e4373a3f6d5
Publikováno v:
Medicina Clínica. 158:547-549
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ea2a57990bc309ff78073d7013246a7
https://doi.org/10.1016/j.medcli.2022.02.001
https://doi.org/10.1016/j.medcli.2022.02.001
Publikováno v:
Medicina Clínica (English Edition). 158:547-549
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ad5c5ef856b9d42e085cb741c398a5
https://doi.org/10.1016/j.medcle.2022.05.003
https://doi.org/10.1016/j.medcle.2022.05.003
Publikováno v:
Diseases, Vol 6, Iss 3, p 69 (2018)
Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners,
Externí odkaz:
https://doaj.org/article/b913b9d5a87b401cbc422aa601f35558
Autor:
María Izarbe Merino-Casallo, José María Domingo-Morera, Susana Olivera-González, Sebastian Menao-Guillen, Miguel Ángel Torralba-Cabeza, José Luis Sierra-Monzón, Elena Bularca
Publikováno v:
High Blood Pressure & Cardiovascular Prevention.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e1886c923e1de5e19f34048759519f7
https://doi.org/10.1007/s40292-021-00459-5
https://doi.org/10.1007/s40292-021-00459-5
Autor:
Alicia Rodríguez-Fernández, María-Amparo Martínez-Gómez, Mónica Climente-Martí, Matilde Merino-Sanjuán, Vicente Giner-Galvañ, Mercedes Almela-Tejedo, Miguel-Ángel Torralba-Cabeza, Jose-Antonio Marcos-Rodríguez, Elena Gras-Colomer, Miguel Fernandez-Zarzoso
Publikováno v:
Basic & Clinical Pharmacology & Toxicology. 123:65-71
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9dcb1974f8b607a563d6ef36d31d0b
https://doi.org/10.1111/bcpt.12977
https://doi.org/10.1111/bcpt.12977
Publikováno v:
Revista Clínica Española. 218:22-28
Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not expla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea77df2899a9cea4a86c0e3224604a0c
https://doi.org/10.1016/j.rce.2017.06.007
https://doi.org/10.1016/j.rce.2017.06.007
Publikováno v:
Revista Clínica Española (English Edition). 218:22-28
Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not expla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4834edd22e7b7ac632a508ec0b40f4cd
https://doi.org/10.1016/j.rceng.2017.09.001
https://doi.org/10.1016/j.rceng.2017.09.001
Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment
Autor:
Carmen Lahuerta Pueyo, Ana Roteta Unceta Barrenechea, Alejandro Andrés Gracia, Sebastián Menao Guillén, Miguel Ángel Aibar Arregui, Miguel Ángel Torralba Cabeza, Jorge Melero Polo
Publikováno v:
Amyloid. 27:144-144
We have read with great interest the article written by Jercan A et al. [1] ‘Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin’, where nine cases of amyloido...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e5a1c9eda938b07ba6bb075614f6ae
https://doi.org/10.1080/13506129.2019.1710126
https://doi.org/10.1080/13506129.2019.1710126